PanelApp
  1. Genes and Genomic Entities
  2. GLDN

GLDN

gliomedin
OMIM: 608603, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green GLDN in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.427

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lethal congenital contracture syndrome 11, MIM# 617194
    • MONDO:0014965

    Amber GLDN in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.328

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Lethal congenital contracture syndrome 11, MIM# 617194

    Green GLDN in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lethal congenital contracture syndrome 11, MIM# 617194
    • MONDO:0014965

    Green GLDN in Multiple pterygium syndrome_Fetal akinesia sequence


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.5

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Lethal congenital contracture syndrome 11, MIM# 617194
    • MONDO:0014965

    Green GLDN in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Lethal congenital contracture syndrome 11, 617194 (3), Autosomal recessive

    Green GLDN in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lethal congenital contracture syndrome 11, MIM# 617194
    • MONDO:0014965

    Green GLDN in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Lethal congenital contracture syndrome 11 MIM#617194